Disease

Niemann-Pick disease type C2

Name: Niemann-Pick disease type C2
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0070114 Niemann-Pick disease type C2 A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3. NPC2

Definition

A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3.

Synonyms

NPC2

Cross References

GARD:3992
ICD10CM:E75.2

Parent Terms

Niemann-Pick disease

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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